Variant report

Variant	rs11819511
Chromosome Location	chr10:49727220-49727221
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49683409..49685423-chr10:49724678..49727528,2	K562	blood:
2	chr10:49713648..49715470-chr10:49724741..49727947,3	K562	blood:
3	chr10:49716373..49718615-chr10:49727056..49729940,2	MCF-7	breast:
4	chr10:49725899..49728759-chr10:49729090..49732756,3	MCF-7	breast:
5	chr10:49725693..49727830-chr10:49743883..49745489,2	K562	blood:
6	chr10:49715470..49718862-chr10:49725582..49728629,3	K562	blood:
7	chr10:49727015..49729249-chr10:49730487..49733103,2	MCF-7	breast:
8	chr10:49667304..49669133-chr10:49726390..49728865,2	K562	blood:
9	chr10:49401868..49404679-chr10:49725799..49728201,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11101356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101359	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101365	0.84[AMR][1000 genomes]
rs11101366	0.84[AMR][1000 genomes]
rs11101367	0.84[AMR][1000 genomes]
rs1867583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7906942	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs935276	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49715800-49727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:49721400-49732000	Weak transcription	HMEC	breast
4	chr10:49723800-49729600	Weak transcription	HSMM	muscle
5	chr10:49724000-49731000	Weak transcription	HUVEC	blood vessel
6	chr10:49724800-49728000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr10:49725000-49730000	Enhancers	Primary hematopoietic stem cells	blood
8	chr10:49725400-49727400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:49725400-49728400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:49725400-49730400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:49725600-49728000	Enhancers	Primary B cells from peripheral blood	blood
12	chr10:49725800-49730200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:49726000-49729200	Enhancers	Fetal Thymus	thymus
14	chr10:49726200-49727600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:49726200-49727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:49726200-49729000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr10:49726400-49727400	Weak transcription	Primary B cells from cord blood	blood
18	chr10:49726400-49727800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr10:49726600-49727400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr10:49726600-49727400	Enhancers	Osteobl	bone
21	chr10:49726600-49728000	Enhancers	Brain Hippocampus Middle	brain
22	chr10:49726600-49728800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:49726600-49729000	Enhancers	NHDF-Ad	bronchial
24	chr10:49726800-49727400	Enhancers	Brain Cingulate Gyrus	brain
25	chr10:49726800-49729800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:49727000-49727400	Genic enhancers	NHLF	lung
27	chr10:49727000-49727600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:49727000-49728200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:49727000-49731000	Weak transcription	Pancreas	Pancrea
30	chr10:49727200-49727400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:49727200-49727400	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr10:49727200-49727800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:49727200-49727800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr10:49727200-49727800	Enhancers	Brain Substantia Nigra	brain
35	chr10:49727200-49728000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr10:49727200-49728000	Enhancers	Colonic Mucosa	Colon
37	chr10:49727200-49728200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr10:49727200-49729800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:49727200-49729800	Weak transcription	K562	blood

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